A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy

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Abstract

We present a female patient with a complex sex chromosomal rearrangement [GRCh38] Xp22.33(10701_981101)x1,Yq11.221q11.23(13948013_26483746)x1 who conceived spontaneously and carried a healthy pregnancy to term. The patient presented with extreme short stature (more than 4SD below expected) and a bilateral Madelung deformity suggesting a possible SHOX deletion. The patient was otherwise medically well. This patient's short stature was found to be a result of a complex chromosome rearrangement involving a partial X chromosome deletion, which included the SHOX gene and a gain of Y chromosomal material. The Y chromosome material did not contain the SRY gene locus. This is the first recorded case to date of this rearrangement in a female who spontaneously conceived which resulted in a live birth. This patient had normal external and internal anatomy and normal endocrine evaluation with normal puberty. X-inactivation studies revealed no evidence of skewed inactivation.

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Coleman, J., Kavanagh, K., Kesterton, I., Hegarty, A. M., O’Connell, S. M., & Lynch, S. A. (2023). A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy. American Journal of Medical Genetics, Part A, 191(12), 2884–2889. https://doi.org/10.1002/ajmg.a.63374

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